biostudies-literatureSievers PCancer Research UKHertie Network of Excellence in Clinical NeuroscienceThe Brain Tumour Charity34-43https://www.ebi.ac.uk/biostudies/studies/S-EPMC7850075biostudies-literatureUnknown23(1)<h4>Background</h4>Malignant astrocytic gliomas in children show a remarkable biological and clinical diversity. Small in-frame insertions or missense mutations in the epidermal growth factor receptor gene (EGFR) have recently been identified in a distinct subset of pediatric-type bithalamic gliomas with a unique DNA methylation pattern.<h4>Methods</h4>Here, we investigated an epigenetically homogeneous cohort of malignant gliomas (n = 58) distinct from other subtypes and enriched for pediatric cases and thalamic location, in comparison with this recently identified subtype of pediatric bithalamic gliomas.<h4>Results</h4>EGFR gene amplification was detected in 16/58 (27%) tumors, and missense mutations or small in-frame insertions in EGFR were found in 20/30 tumors with available sequencinNeuro-oncologyA subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR.PMC785007516/19323536Kramm CMStichel DPfister SMSolomon DASievers PSturm DKorshunov AWesseling PJones CSchrimpf DCastel DSnuderl MWitt OHench JReuss DEHarter PNJabado NReifenberger GFrank SVicha ADebily MAvon Deimling AJacques TSJones DTWZapotocky MPerry AKrskova LSahm FGrill JWick WBison BSill MfalseA subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR.<h4>Background</h4>Malignant astrocytic gliomas in children show a remarkable biological and clinical diversity. Small in-frame insertions or missense mutations in the epidermal growth factor receptor gene (EGFR) have recently been identified in a distinct subset of pediatric-type bithalamic gliomas with a unique DNA methylation pattern.<h4>Methods</h4>Here, we investigated an epigenetically homogeneous cohort of malignant gliomas (n = 58) distinct from other subtypes and enriched for pediatric cases and thalamic location, in comparison with this recently identified subtype of pediatric bithalamic gliomas.<h4>Results</h4>EGFR gene amplification was detected in 16/58 (27%) tumors, and missense mutations or small in-frame insertions in EGFR were found in 20/30 tumors with available sequencin2021-01-01T00:00:00Z2021 Jan2026-04-08T13:53:01.103Z2022-02-11T12:24:33.3ZS-EPMC78500753313088110.1093/neuonc/noaa251